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Ann Clin Lab Sci. 2015 Summer;45(4):433-7.

Association between SNP309 and del1518 Polymorphism in MDM2 Homologue and Esophageal Squamous Cell Carcinoma Risk in Chinese Population of Shandong Province.

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Department of Forensic Medicine, Xinxiang Medical University, Xinxiang, Henan, China.
Department of Human Anatomy, Xinxiang Medical University, Xinxiang, Henan, China Department of Histology and Embryology, Huazhong University of Science and Technology, Wuhan, Hubei, China



Murine double-minute 2 homologue (MDM2) is a key negative regulator of p53. Polymorphisms in the promoter region were shown to alter the gene activity and/or function, suggesting a possible role in carcinogenesis.


The current study aims to investigate the association of SNP309 and del1518 polymorphisms as well as their haplotypes in MDM2 with the risk of esophageal squamous cell carcinoma (ESCC) in the Chinese population. This study included 132 patients with ESCC and 132 age-matched healthy controls. Genotyping was performed by RFLP-PCR analysis. Genotypic and allelic frequencies were then evaluated. Statistical analyses were performed using SPSS software.


The frequency of the GG genotype of SNP309 was 10.61% for controls and 18.94% for cases. A significant difference was detected between the two groups (odds ratio [OR] 2.27; 95% confidence interval [CI]: 1.04-4.97; p=0.04). The linkage disequilibrium (LD) existed between SNP309 and del 1518(D'=0.68) in MDM2. Compared with "T-" haplotype, the "G+" haplotype can significantly increase the risk of ESCC (OR=1.65; 95% CI:1.09-2.51; p=0.02).


MDM2 SNP309 polymorphisms and SNP309G-del1518+ haplotype may significantly contribute to genetic susceptibility to ESCC in the Chinese population.


ESCC; MDM2; RFLP-PCR; SNP309; del1518

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